Works matching IS 09646906 AND DT 2014 AND VI 23 AND IP 12

Results: 28

An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 12, p. 3316

By:

Morris, Derek W.;
Pearson, Richard D.;
Cormican, Paul;
Kenny, Elaine M.;
O'Dushlaine, Colm T.;
Perreault, Louis-Philippe Lemieux;
Giannoulatou, Eleni;
Tropea, Daniela;
Maher, Brion S.;
Wormley, Brandon;
Kelleher, Eric;
Fahey, Ciara;
Molinos, Ines;
Bellini, Stefania;
Pirinen, Matti;
Strange, Amy;
Freeman, Colin;
Thiselton, Dawn L.;
Elves, Rachel L.;
Regan, Regina

Publication type:

Article

Insights into the mechanisms of macular degeneration associated with the R172W mutation in RDS.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 12, p. 3102, doi. 10.1093/hmg/ddu014

By:

Conley, Shannon M.;
Stuck, Michael W.;
Burnett, Justin L.;
Chakraborty, Dibyendu;
Azadi, Seifollah;
Fliesler, Steven J.;
Naash, Muna I.

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 12, p. NP, doi. 10.1093/hmg/ddu261
Publication type:: Article

Thiol peroxidases ameliorate LRRK2 mutant-induced mitochondrial and dopaminergic neuronal degeneration in Drosophila.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 12, p. 3157, doi. 10.1093/hmg/ddu026

By:

Angeles, Dario C.;
Ho, Patrick;
Chua, Ling Ling;
Wang, Cheng;
Yap, Yan Wann;
Ng, Cheehoe;
Zhou, Zhi dong;
Lim, Kah-Leong;
Wszolek, Zbigniew K.;
Wang, Hong Y.;
Tan, Eng King

Publication type:

Article

Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 12, p. 3289

By:

Santos-Cortez, Regie Lyn P.;
Lee, Kwanghyuk;
Giese, Arnaud P.;
Ansar, Muhammad;
Amin-Ud-Din, Muhammad;
Rehn, Kira;
Wang, Xin;
Aziz, Abdul;
Chiu, Ilene;
Hussain Ali, Raja;
Smith, Joshua D.;
Shendure, Jay;
Bamshad, Michael;
Nickerson, Deborah A.;
Ahmed, Zubair M.;
Ahmad, Wasim;
Riazuddin, Saima;
Leal, Suzanne M.

Publication type:

Article

Germline disruption of Pten localization causes enhanced sex-dependent social motivation and increased glial production.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 12, p. 3212, doi. 10.1093/hmg/ddu031

By:

Tilot, Amanda K.;
Gaugler, Mary K.;
Yu, Qi;
Romigh, Todd;
Yu, Wanfeng;
Miller, Robert H.;
Frazier, Thomas W.;
Eng, Charis

Publication type:

Article

IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet–Biedl syndrome.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 12, p. 3307, doi. 10.1093/hmg/ddu044

By:

Aldahmesh, Mohammed A.;
Li, Yuanyuan;
Alhashem, Amal;
Anazi, Shams;
Alkuraya, Hisham;
Hashem, Mais;
Awaji, Ali A.;
Sogaty, Sameera;
Alkharashi, Abdullah;
Alzahrani, Saeed;
Al Hazzaa, Selwa A.;
Xiong, Yong;
Kong, Shanshan;
Sun, Zhaoxia;
Alkuraya, Fowzan S.

Publication type:

Article

Long-term treatment with naproxcinod significantly improves skeletal and cardiac disease phenotype in the mdx mouse model of dystrophy.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 12, p. 3239, doi. 10.1093/hmg/ddu033

By:

Uaesoontrachoon, Kitipong;
Quinn, James L;
Tatem, Kathleen S;
Van Der Meulen, Jack H;
Yu, Qing;
Phadke, Aditi;
Miller, Brittany K;
Gordish-Dressman, Heather;
Ongini, Ennio;
Miglietta, Daniela;
Nagaraju, Kanneboyina

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 12, p. NP, doi. 10.1093/hmg/ddu263
Publication type:: Article

Fate of induced pluripotent stem cells following transplantation to murine seminiferous tubules.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 12, p. 3071, doi. 10.1093/hmg/ddu012

By:

Durruthy Durruthy, Jens;
Ramathal, Cyril;
Sukhwani, Meena;
Fang, Fang;
Cui, Jun;
Orwig, Kyle E.;
Reijo Pera, Renee A.

Publication type:

Article

A genome-wide association study of intra-ocular pressure suggests a novel association in the gene FAM125B in the TwinsUK cohort.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 12, p. 3343

By:

Nag, Abhishek;
Venturini, Cristina;
Small, Kerrin S.;
Young, Terri L.;
Viswanathan, Ananth C.;
Mackey, David A.;
Hysi, Pirro G.;
Hammond, Christopher

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 12, p. NP, doi. 10.1093/hmg/ddu260
Publication type:: Article

Induced ablation of Bmp1 and Tll1 produces osteogenesis imperfecta in mice.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 12, p. 3085, doi. 10.1093/hmg/ddu013

By:

Muir, Alison M.;
Ren, Yinshi;
Butz, Delana Hopkins;
Davis, Nicholas A.;
Blank, Robert D.;
Birk, David E.;
Lee, Se-Jin;
Rowe, David;
Feng, Jian Q.;
Greenspan, Daniel S.

Publication type:

Article

Human skeletal muscle xenograft as a new preclinical model for muscle disorders.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 12, p. 3180, doi. 10.1093/hmg/ddu028

By:

Zhang, Yuanfan;
King, Oliver D.;
Rahimov, Fedik;
Jones, Takako I.;
Ward, Christopher W.;
Kerr, Jaclyn P.;
Liu, Naili;
Emerson, Charles P.;
Kunkel, Louis M.;
Partridge, Terence A.;
Wagner, Kathryn R.

Publication type:

Article

Identification of a post-translationally myristoylated autophagy-inducing domain released by caspase cleavage of Huntingtin.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 12, p. 3166, doi. 10.1093/hmg/ddu027

By:

Martin, Dale D.O.;
Heit, Ryan J.;
Yap, Megan C.;
Davidson, Michael W.;
Hayden, Michael R.;
Berthiaume, Luc G.

Publication type:

Article

Meta-analysis of loci associated with age at natural menopause in African-American women.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 12, p. 3327, doi. 10.1093/hmg/ddu041

By:

Chen, Christina T.L.;
Liu, Ching-Ti;
Chen, Gary K.;
Andrews, Jeanette S.;
Arnold, Alice M.;
Dreyfus, Jill;
Franceschini, Nora;
Garcia, Melissa E.;
Kerr, Kathleen F.;
Li, Guo;
Lohman, Kurt K.;
Musani, Solomon K.;
Nalls, Michael A.;
Raffel, Leslie J.;
Smith, Jennifer;
Ambrosone, Christine B.;
Bandera, Elisa V.;
Bernstein, Leslie;
Britton, Angela;
Brzyski, Robert G.

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 12, p. NP, doi. 10.1093/hmg/ddu262
Publication type:: Article

CNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 12, p. 3228, doi. 10.1093/hmg/ddu032

By:

Ludwig, Anna Lisa;
Espinal, Glenda M.;
Pretto, Dalyir I.;
Jamal, Amanda L.;
Arque, Gloria;
Tassone, Flora;
Berman, Robert F.;
Hagerman, Paul J.

Publication type:

Article

Partial restoration of cardiac function with ΔPDZ nNOS in aged mdx model of Duchenne cardiomyopathy.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 12, p. 3189, doi. 10.1093/hmg/ddu029

By:

Lai, Yi;
Zhao, Junling;
Yue, Yongping;
Wasala, Nalinda B.;
Duan, Dongsheng

Publication type:

Article

Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 12, p. 3269, doi. 10.1093/hmg/ddu038

By:

Carss, Keren J.;
Hillman, Sarah C.;
Parthiban, Vijaya;
McMullan, Dominic J.;
Maher, Eamonn R.;
Kilby, Mark D.;
Hurles, Matthew E.

Publication type:

Article

Therapeutic benefit of lentiviral-mediated neonatal intracerebral gene therapy in a mouse model of globoid cell leukodystrophy.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 12, p. 3250, doi. 10.1093/hmg/ddu034

By:

Lattanzi, Annalisa;
Salvagno, Camilla;
Maderna, Claudio;
Benedicenti, Fabrizio;
Morena, Francesco;
Kulik, Willem;
Naldini, Luigi;
Montini, Eugenio;
Martino, Sabata;
Gritti, Angela

Publication type:

Article

Copy-number variation of the neuronal glucose transporter gene SLC2A3 and age of onset in Huntington's disease.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 12, p. 3129

By:

Vittori, Angelica;
Breda, Carlo;
Repici, Mariaelena;
Orth, Michael;
Roos, Raymund A.C.;
Outeiro, Tiago F.;
Giorgini, Flaviano;
Hollox, Edward J.

Publication type:

Article

microRNA-224 regulates Pentraxin 3, a component of the humoral arm of innate immunity, in inner ear inflammation.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 12, p. 3138, doi. 10.1093/hmg/ddu023

By:

Rudnicki, Anya;
Shivatzki, Shaked;
Beyer, Lisa A.;
Takada, Yohei;
Raphael, Yehoash;
Avraham, Karen B.

Publication type:

Article

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 12, p. 3200

By:

Martin, Hilary C.;
Kim, Grace E.;
Pagnamenta, Alistair T.;
Murakami, Yoshiko;
Carvill, Gemma L.;
Meyer, Esther;
Copley, Richard R.;
Rimmer, Andrew;
Barcia, Giulia;
Fleming, Matthew R.;
Kronengold, Jack;
Brown, Maile R.;
Hudspith, Karl A.;
Broxholme, John;
Kanapin, Alexander;
Cazier, Jean-Baptiste;
Kinoshita, Taroh;
Nabbout, Rima;
Bentley, David;
McVean, Gil

Publication type:

Article

A distinct set of long non-coding RNAs in childhood MLL-rearranged acute lymphoblastic leukemia: biology and epigenetic target.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 12, p. 3278, doi. 10.1093/hmg/ddu040

By:

Fang, Ke;
Han, Bo-Wei;
Chen, Zhen-Hua;
Lin, Kang-Yu;
Zeng, Cheng-Wu;
Li, Xiao-Juan;
Li, Jun-Hao;
Luo, Xue-Qun;
Chen, Yue-Qin

Publication type:

Article

Fat mass and obesity-associated (FTO) protein interacts with CaMKII and modulates the activity of CREB signaling pathway.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 12, p. 3299, doi. 10.1093/hmg/ddu043

By:

Lin, Li;
Hales, Chadwick M.;
Garber, Kathryn;
Jin, Peng

Publication type:

Article

Rare and private variations in neural crest, apoptosis and sarcomere genes define the polygenic background of isolated Tetralogy of Fallot.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 12, p. 3115, doi. 10.1093/hmg/ddu021

By:

Grunert, Marcel;
Dorn, Cornelia;
Schueler, Markus;
Dunkel, Ilona;
Schlesinger, Jenny;
Mebus, Siegrun;
Alexi-Meskishvili, Vladimir;
Perrot, Andreas;
Wassilew, Katharina;
Timmermann, Bernd;
Hetzer, Roland;
Berger, Felix;
Sperling, Silke R.

Publication type:

Article

Glycogen accumulation underlies neurodegeneration and autophagy impairment in Lafora disease.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 12, p. 3147, doi. 10.1093/hmg/ddu024

By:

Duran, Jordi;
Gruart, Agnès;
García-Rocha, Mar;
Delgado-García, José M.;
Guinovart, Joan J.

Publication type:

Article